Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.800 1.000 6 2013 2017
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 6 2013 2017
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		0.700 1.000 6 2013 2017
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0